Testing Children for Genetic Carrier Status

Abstract

A number of studies have shown that some parents of children with a genetic condition are interested in knowing the carrier
status of their other, unaffected children. The majority of international guidelines suggest that carrier testing in childhood
is inappropriate and should be delayed until the child reaches the age of majority. These recommendations are often based
on theoretical concerns and ethical considerations as there is a lack of evidence in the literature that performing carrier
testing in childhood leads to any psychosocial harm. There is also evidence that carrier testing does take place in some circumstances.
The different guidelines and position statements of professional bodies regarding carrier testing in childhood are reviewed.
The views of both health professionals and parents about whether carrier testing is appropriate are described, along with
the current evidence regarding the psychosocial impacts of performing carrier testing in children.

Key Concepts

The majority of international guidelines recommend against carrier testing in childhood.

Despite the guidelines, carrier testing does take place in some children in the context of an affected sibling.

Health professionals' willingness to test children for carrier status depends on a range of different factors, including the
genetic condition.

Some parents want to know the carrier status of their unaffected children following the diagnosis of an affected child.

Parents express a range of motivations for desiring this information, although many want to communicate the carrier information
to their child.

Currently there is no evidence of harm from performing carrier testing in childhood, although further research is warranted.

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